Beyond Screening: Identifying Autism Spectrum Disorders in

Primary Care PracticeModified from the Educating Practices in the Community (EPIC) Program

forThe Child Health and Development Institute

Sarah Schlegel, M.D.Developmental-Behavioral Pediatrician, Connecticut Children’s Medical Center

Assistant Professor of Pediatrics, University of Connecticut School of Medicine

Jennifer Twachtman-Bassett, M.S. CCC-SLPAutism Clinical Specialist and Research Coordinator

Connecticut Children’s Medical Center

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Disclosure

Sarah Schlegel and Jennifer Twachtman-Bassett do not have any actual or apparent conflict of interest related to the content of their presentation; they do not have financial interest/arrangement of affiliation with any organizations that could be perceived as conflict of interest in the context of the subject of their presentation.

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Learning Objectives• Participants will be able to:

– Describe three changes to autism diagnosis

– Name 2 screening instruments designed for children over the age of 3.

– Describe 2 ways to respond to parent concerns regarding autism spectrum disorder

– Describe 3 ways to support families when a child receives a formal diagnosis of autism spectrum disorder

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Autism Spectrum Disorder - DSM V

New name for “autistic disorder”, which includes: – Autistic disorder (classic autism)– Asperger’s disorder– Pervasive developmental disorder- not

otherwise specified (PDD–NOS)– Childhood disintegrative disorder

Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Wash. DC. APA, 2013

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Autism Spectrum Disorder (DSM-V)A. Social and communication deficits, must have 3:

• Limited social/emotional reciprocity• Nonverbal communicative behavior• Deficits in developing and maintaining relationships

B. Fixed interests & repetitive behavior. Must have at least 2:• Repetitive speech, motor movements, and/or use of objects• Excessive adherence to routines• Highly restricted or fixed interests• Atypical sensory responses

C. Symptoms present in early childhood (but may not be fully manifest until social demands exceed limited capacities)

D. Symptoms together limit and impair everyday functioning

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Autism Spectrum Disorder (DSM-V)Three new “Severity Levels” for ASD:

1.Requiring very substantial support:– Severe impairments in social-communication functioning– Preoccupations, rituals and/or repetitive behaviors (RBs)

interfere with all aspects of functioning. Marked distress when routines are interrupted

2.Requiring substantial support:– Marked deficits in functioning are apparent even with support– RBs are frequent enough to be obvious to the casual observer

and interfere with functioning in many contexts. Distress is apparent when routines are interrupted

3.Requiring support:– Deficits are noticeable when supports are not in place– RBs cause significant interference in functioning. Resists

redirection

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ICD-10• Will be implemented October 1, 2014• Nine different disorders under autism:

– F84—PDD – F84.0—Childhood Autism (Kanner autism)– F84.1—Atypical autism– F84.2—Rett Syndrome– F84.3—Other Childhood Disintegrative Disorder– F84.4—Overactive Disorder associated with Mental

Retardation and Stereotyped Movements– F84.5—Asperger syndrome– F84.8—Other Pervasive Developmental Disorders (no

description given)– F84.9—Pervasive Developmental Disorder, Unspecified (no

description given)

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What about the older child (>4)?

• Many children are missed by early screening instruments.– Designed to catch delays, more able children

may not demonstrate delays at early ages– Age out: M-CHAT ends at 30 months– Subtle symptoms:

• May not be evident in a short office visit• Child may have strong talents / strengths• Child may not appear atypical until he/she is

seen in the context of a larger group of peers

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Parent Concerns Warrant Attention

Parents continue to frequently report a gap between concerns about their child’s development and a diagnosis of an autism spectrum disorder.

(Carbone, Behl, Azor, & Murphy, 2010; Ryan & Salisbury, 2012)

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“Red Flags” for older children

Difficulty having a back-and-forth conversation Difficulty understanding / using nonverbal

signals (gestures, facial expressions) Difficulty developing and maintaining

friendships with peers Formal speech Difficulty understanding humor Limited imagination and/or pretend play

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Parents may report…• Bullying• Child has few friends• Child is smart but isolates himself/herself from

social situations• Significant anxiety• Obsessive interests and/or behavior• Child is overly social and is rejected by peers• Child “has no common sense”• Child previously did well academically but is now

struggling

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Screening older children (age 4+)

Screen if there are parent concerns•Recommend screening to children who exhibit “red flags”•Family history of ASD (siblings, etc.), but passed early screening / evaluation•Concerns by school personnel regarding ASD or related disorder

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Childhood Autism Spectrum Test (CAST) (Scott, Baron-Cohen, Bolton, & Brayne, 2002)

•Recommended on the CDC website•Ages 4-11; 39-item parent questionnaire•Easy to administer•Has been used as a general population screen in research studies•Determines need for further evaluation but does not diagnose•Free and available for use:–Online version: http://psychology-tools.com/cast/ –www.autismresearchcentre.com Need to create an account in order to download

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Childhood Autism Spectrum Test (CAST) Sample questions

1. Does s/he join in playing games with other children? 5. Is it important to him/her to fit in with the peer group? 6. Does s/he appear to notice unusual details that others miss7. Does s/he tend to take things literally?8. When s/he was 3 years old, did s/he spend a lot of time pretending 9. Does s/he like to do things over and over again, in the same way all the time?11. Can s/he keep a two-way conversation going?14. Does s/he have an interest which takes up so much time that s/he does little else?20. Is his/her voice unusual (e.g., overly adult, flat, or very monotonous)? 29. Is his/her social behaviour very one-sided and always on his/her own terms?

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Name of Instrument

Description Age Availability / Cost

Autism Spectrum Screening Questionnaire (ASSQ)(Ehlers, Gillberg, & Wing, 1999)

• 27 items• 10 minutes

6-17 years

• Available from Journal of Autism and Developmental Disabilities

Autism Quotient—Child Version(Auyeung, Baron-Cohen, Wheelwright, & Allison, 2007)

• Parent report questionnaire

• 50 items

4-11 years

• Available free from:www.autismresearchcentr

e.com need to create an account in order to download

Autism Quotient—Adolescent Version(Baron-Cohen, Hoekstra, Knickmeyer, & Wheelwright, 2006)

• Parent report questionnaire

• 50 items

12-16 years

• Available free from:www.autismresearchcentr

e.com

Social Communication Questionnaire (SCQ) (Rutter, Bailey, & Lord, 2003)

• < 10 minutes• Parent

response scale • 40 items • Based on the

ADI-R

anyone over age 4 (mental age over age 2)

Available from WPS www.wpspublish.com $129.00 for autoscore version with 20 current and 20 lifetime forms included

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Billing• 96110 for any developmental screening

(e.g. ASQ, CAST, PEDS) done with a formal screening tool

• Can be billed on the same day as a well child exam or with other visit

• Modifiers 25 and 59 – (distinct procedural service)

• Bill follow-up office visits with E&M codes 99212-99215

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Parent completes

CAST

Clinical staff scores, review

results

Screens Negative Screens

Positive

PCP discusses results and concerns with parents

Concerns

• PCP discusses results / concerns with parents

• Refer to Child Development Infoline

• Directly refer for further evaluation

• PCP discusses results

• Provides anticipatory guidance

• No immediate action needed

• Provide anticipatory guidance• Monitor development• Rescreen at next well child visit• Refer to Child Development

Infoline

Further concernsNo concerns

• Parent concerns• Red flags

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Why refer?• Short office visits = insufficient time to

diagnose some children– Diagnosis can be complex for some children, but

is possible with sufficient assessment (i.e. additional standardized assessment)

– Symptoms of more able children with ASD are subtle in young children, but can become more apparent over time.

– Research: greater gains with earlier intervention– There is significant symptom overlap with many

other disorders, and/or comorbidity

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When there are Concerns: Open the Conversation

“I agree with your concerns about …”“Your answers to the questionnaire

told me ______________1. We need to speak further…2. I’d like someone to take a closer

look at…3. This is a “working diagnosis…”

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Referrals for Comprehensive ASD Evaluation

For further consultation:

• Connecticut Children’s Medical Center– 860.837.5916 (number for providers)– 860.837.5915 (number for families)

• UCONN Dept of Psychology (Storrs)– 860.486.2538

• Yale Child Study Center– 203.785.3420

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If a child receives a diagnosis of autism spectrum disorder…

What are the next steps?

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Medical Search Strategy The American College of Medical Genetics and Genomics (ACMG) (2010), recommends microarray CMA as a first-line test in the initial postnatal evaluation of individuals with the following: •Multiple anomalies not specific to a well-delineated genetic syndrome •Apparently nonsyndromic developmental delay/ intellectual disability •Autism spectrum disorders (after diagnosis is made)

CMA has higher sensitivity than standard G-banded karyotype for submicroscopic deletions and duplications and offers a diagnostic yield of 15-20%.  

Array-based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities. Genet Med 12:11:742-745.

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Educating Families about Microarray

• Test method: Blood draw– Can this be combined with other needed tests?

• Explain what the test is looking for and possible results parents might expect

• Be prepared to explain any abnormal results to families

• Support families if they refuse or want to postpone test

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Guidelines for Ordering Microarray

• Obtain pre-authorization if the family has private insurance

• Encourage families to check with their insurance company

• Check if test is only covered at specific labs (Husky)– Husky coverage guidelines: http://www.huskyhealthct.org/providers/

provider_postings/policies_procedures/Genetic_Testing-DD_ASD_and_MR.pdf

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Referrals for Additional Evaluation may be Recommended by the Diagnostician

• Psychological• OT (sensory processing) • Speech therapy• Feeding Team• AAC Clinic• Behavioral health / Psychiatric

– Behavioral issues; Comorbid d/o; differential diagnosis– Medication

• NeuropsychologicalEvaluations may be medically-based or school-based PCP can facilitate connections for families

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The First Step: Establishing Services

1. The parent needs to call the school district’s special education department or office of special services– The family will need the diagnostic report—they may

need to get this from the PCP– Parents can expect the school to set up an evaluation

or diagnostic placement for the child– The school may create an Individualized Education Plan

(IEP) using the educational classification of “autism” or a 504 plan that specifies accommodations for the child

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Services Schools May Provide• Self-contained classroom• Child may attend a regular classroom with special

education support and/or a one-on-one paraprofessional• Resource room support• Therapeutic services (speech, OT, PT, etc.)• Social skills services• Behavioral supports / behavior plan• Counseling services with social worker or school

psychologist• Accommodations for homework / assignments• Vocational services / assistance

Services are provided based upon educational necessity

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Overview of Therapeutic Approaches

• Applied Behavioral Analysis (ABA)-based:– Discrete Trial Training (DTT) (adult-directed)– Pivotal Response Treatment (PRT) (child-directed)– Picture Exchange Communication System (PECS)

• Relationship-based:– Floortime / Difference Relationship Model (DIR)– Relationship Development Intervention (RDI)– Social Communication / Emotion Regulation / Transactional

Supports (SCERTS)• Incorporates components of PRT, TEACCH, Floortime, and

RDI

• TEACCH / Structured teaching

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Families May Request…• A letter to establish Medicaid eligibility or other disability

services• A letter to support the establishment of or increase in

school-based services• Referral / Prescription for outpatient evaluation and services

– Therapy (OT, PT, speech)– Behavioral health (outpatient and/or in-home services)– Additional evaluations

• Recommendations for / Referral to community-based services

• Assessment of the child’s need for medication• Insight regarding:

– Specialized diets– Nutritional supplements

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Ongoing Role for PCP• Include feedback from others (teachers, families)

• Maintain medical record

• Use a care team, including others who provide services to the child

• Continue monitoring health and development

• Note changes in school performance, peer relationships, and behavior and share notes with other providers

• Make specialist referrals as needed

• Coordinate with specialists

• Connect family to family support options

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What is Care Coordination?

• A patient- and family-centered, assessment-driven, team-based activity designed to meet the needs of children and Youth while enhancing the care giving capabilities of families

• Care coordination addresses interrelated medical, social, developmental, behavioral, educational, and financial needs to achieve optimal health and wellness outcomes.

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What is a Medical Home?

• A community-based primary care setting which provides and coordinates high-quality, planned, family-centered health promotion, acute illness care, and chronic condition management.

• This setting provides an excellent starting point for connecting children and families to the larger arena of health and community services

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Family Support OptionsCT Child Development Infoline 211 or

800.505.7000• Local Special Education Department (children > 3)• CT Medical Home Initiative (5 statewide regions) www.ct.gov ; search

“Autism” to find region.• CT Family Support Network (CTFSN): www.ctfsn.org ; 1.877.376.2329• Department of Developmental Services (DDS) / Division of Autism

Services: www.ct.gov/dds/ ; 860.418.6078• Autism Services & Resources Connecticut (ASRC):

www.autismconnecticut.org ; 1.888.453.4975• Autism Speaks: www.autismspeaks.org ; 1.888.288.4762

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Resources (cont)

• CT Department of Public Health-Medical Home Initiative– South West Region-Stamford Hospital 1-866-239-3907

– South Central Region – Family Centered Services of CT 1-877-624-2601

– Eastern Region- United community and Family Service, Inc– 1-866-923-8237

– North Central Region- Connecticut Children’s Medical Center-1-877-835-5768

– North West Region-ST Mary’s Hospital-1-866-517-4388

• Education Materials available upon request from the Special Kids Support Center:

• Contact us: 1-877-835-5768

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Resources at CTAAP• “Connecticut Guidelines for a

Clinical Diagnosis of Autism Spectrum Disorder”

• “Connecticut Collaborative to Improve Services for Children and Youth with Autism Spectrum Disorder”

• Referral letter

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Web Resources• http://www.gaaap.org/

HCS&Surveillance.htm

• AAP coding fact sheet: http://coding.aap.org/content.aspx?aid=10423

• http://www.gaaap.org/HSC&Surveillance/aap.coding%20fact%20sheet.6.17.08.pdf

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